Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism
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Mohammed Tredano
Abstract
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer (consisting mainly of phospholipids), and of an aqueous subphase. From discrete surfactant sub-fractions one can isolate strongly hydrophobic surfactant proteins B (SP-B) and C (SP-C) as well as collectins SP-A and SP-D, which were shown to have specific structural, metabolic, or immune properties. Inborn or acquired abnormalities of the s u rfactant, qualitative or quantitative in nature, account for a number of human diseases. Beside hyaline membrane disease of the preterm neonate, a cluster of hereditary or acquired lung diseases has been characterized by periodic acid-Schiff-positive material filling the alveoli. From this heterogeneous nosologic group, at least two discrete entities presently emerge. The first is the SP-B deficiency, in which an essentially proteinaceous material is stored within the alveoli, and which represents an autosomal recessive Mendelian entity linked to the SFTPB gene (MIM 1786640). The disease usually generally entails neonatal respiratory distress with rapid fatal outcome, although partial or transient deficiencies have also been observed. The second is alveolar proteinosis, characterized by the storage of a mixed protein and lipid material, which constitutes a relatively heterogeneous clinical and biological syndrome, especially with regard to age at onset (from the neonate through to adulthood) as well as the severity of associated signs. Murine models, with a targeted mutation of the gene encoding granulocyte macrophage colony-stimulating factor (GM-CSF) (Csfgm) or the β subunit of its receptor (Il3rb1) support the hypothesis of an abnormality of surfactant turnover in which the alveolar macrophage is a key player. Apart from SP-B deficiency, in which a near-consensus diagnostic chart can be designed, the ascertainment of other abnormalities of surfactant metabolism is not straightforward. The disentdisentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolar lavages, GM-CSF replacement, bone marrow grafting or lung transplantation.
Copyright (c) 2001 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- Special Issues of the Journal
- Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism
- The Effects of Impaired Trace Element Status on Polymorphonuclear Leukocyte Activation in the Development of Vascular Complications in Type 2 Diabetes Mellitus
- Free and Complexed Prostate-Specific Antigen (PSA) in the Early Detection of Prostate Cancer
- Heterogeneity of DNA Methylation Status Analyzed by Bisulfite-PCR-SSCP and Correlation with Clinico-Pathological Characteristics in Colorectal Cancer
- Serum Amyloid A Protein (SAA) in Colorectal Carcinoma
- Metal Exposure from Amalgam Alters the Distribution of Trace Elements in Blood Cells and Plasma
- Diabetic Cataract and the Total Antioxidant Status in Aqueous Humor
- Candidate Gene Polymorphism in Cardiovascular Disease: A Comparative Study of Frequencies between a French and an Italian Population
- Reference Values for Plasma Dipeptidyl Peptidase IV Activity and Their Association with Other Laboratory Parameters
- Influence of Index of Individuality on False Positives in Repeated Sampling from Healthy Individuals
- Regional Reference Values for some Quantities Measured with the ADVIA Centaur Analyser. A Model of Co-operation between the In Vitro Diagnostic Industry and Clinical Laboratories
- Tissue Polypeptide-Specific Antigen (TPS) Concentrations in Cerebrospinal Fluid in Patients with Breast Cancer Metastases in the Central Nervous System
- The Measurement of Anti-Hepatitis C Virus Antibody in Sera Using a New Generation Immunoassay
- Quality Specifications for Cardiac Troponin Assays
- IFCC News January 2001
